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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. SRGAP1
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: SRGAP1

Amber List (moderate evidence)
SRGAP1 (SLIT-ROBO Rho GTPase activating protein 1)
EnsemblGeneIds (GRCh38): ENSG00000196935
EnsemblGeneIds (GRCh37): ENSG00000196935
OMIM: 606523, Gene2Phenotype
SRGAP1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported.
Created: 16 Jan 2020, 4:45 a.m. | Last Modified: 16 Jan 2020, 4:45 a.m.
Panel Version: 0.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CAKUT

Publications

Created: 16 Jan 2020, 4:45 a.m.
Last Modified: 16 Jan 2020, 4:45 a.m.
Panel version: 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
OMIM
606523
Clinvar variants
Variants in SRGAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SRGAP1 were changed from CAKUT to CAKUT

16 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SRGAP1 were changed from CAKUT to CAKUT

16 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SRGAP1 were set to 26026792

16 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srgap1 has been classified as Amber List (Moderate Evidence).

16 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SRGAP1 were changed from to CAKUT

16 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SRGAP1 were set to

16 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SRGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srgap1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SRGAP1 was added gene: SRGAP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SRGAP1 was set to Unknown